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Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?
N Flanagan1, W J O'Connor, B McCartan
1Department of Dermatology, St James's Hospital, Dublin, Ireland.
Journal of Medical Genetics
|August 1, 1997
Summary
Dental enamel pitting is significantly more common in individuals with tuberous sclerosis (TS). However, this finding is not a reliable screening tool for first-degree relatives to detect TS.
Area of Science:
- Dentistry
- Genetics
- Medical Diagnostics
Background:
- Tuberous sclerosis (TS) is a genetic disorder that can affect multiple organs.
- Dental enamel hypoplasia, characterized by pits, has been observed in TS patients.
Purpose of the Study:
- To investigate the prevalence of pitted enamel hypoplasia in tuberous sclerosis patients and their first-degree relatives.
- To assess the utility of dental enamel pitting as a screening method for tuberous sclerosis in relatives.
Main Methods:
- Examination of dental enamel pits in 10 probands with tuberous sclerosis (TS).
- Assessment of 20 first-degree relatives and 25 control individuals.
- Quantification of pit numbers per person to compare prevalence across groups.
Main Results:
- 100% of TS patients exhibited pitted enamel hypoplasia.
- Prevalence in relatives (65%) and controls (72%) was lower than in TS patients.
- TS cases frequently had >14 pits/person (70%), unlike relatives (5%) and controls (4%).
Conclusions:
- Significantly higher dental enamel pit counts are confirmed in individuals with TS compared to controls.
- Dental enamel pit examination is not a useful screening test for first-degree relatives to identify unsuspected tuberous sclerosis cases.
- The low prevalence of pits in relatives may be due to the absence of the TS gene in the studied cohort.